M29L (p.Met29Leu) variant of SLCO1B1 (Q9Y6L6)
M29L (p.Met29Leu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
M29L (p.Met29Leu) variant details
- p.Met29Leu
- gnomAD 12-21172650-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0981
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.05
- CADD 7.34
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available